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55. The SARS-CoV-2 Spike protein alters human cardiac pericyte function and interaction with endothelial cells through a non-infective mechanism involving activation of CD147 receptor signalling

Author

Avolio, E, primary, Carrabba, M, additional, Kavanagh Williamson, M, additional, Milligan, R, additional, Gupta, K, additional, Gamez, M, additional, Foster, R, additional, Berger, I, additional, Caputo, M, additional, Davidson, A, additional, Hill, D, additional, and Madeddu, P, additional

Published
2021
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74. Extending the adaptability of reference models

Author

Reinhartz-Berger, I., Soffer, P., and Sturm, A.

Subjects
Business application suite, System design, Process management (Computers) -- Analysis, Integrated software -- Evaluation, System design -- Usage, Systems analysis -- Usage
Published
2010

78. 25th International Systems and Software Product Line Conference. Proceedings - Volume A

Author

Mousavi M., Schobbens P. Y., Araujo H., Schaefer I., Ter Beek M. H., Devroey X., Rojas J. M., Pinto M., Teixeira L., Berger T., Noppen J., Reinhartz-Berger I., Temple P., Damiani F., and Petke J.

Subjects
Software product lines
Abstract

Welcome to SPLC 2021, the 25th International Systems and Software Product Line Conference. Variability is at the core of most modern computer and cyber-physical systems. Product lines provide a structured method for dealing with variability. They represent one of the most exciting paradigm shifts in software and systems development, with new challenges and opportunities for both research and practice. For decades, SPLC has been the ?agship venue for practitioners, researchers, and educators interested in systems and software product lines. SPLC is a great venue for learning about the state of the art as well as practice, trends, innovations, industry experiences, and challenges in the area of systems family engineering at large. SPLC 2021 took place from September 6th to 11th.

Published
2021

79. The transCampus metabolic training programme explores the link of SARS-CoV-2 virus to metabolic disease

Author

Bornstein, S.R., Guan, K., Brunßen, C., Mueller, G., Kamvissi-Lorenz, V., Lechler, R., Trembath, R., Mayr, M., Poston, L., Sancho, R., Ahmed, S., Alfar, E., Aljani, B., Alves, T.C., Amiel, S., Andoniadou, C.L., Bandral, M., Belavgeni, A., Berger, I., Birkenfeld, A.L., Bonifacio, E., Chavakis, T., Chawla, P., Choudhary, P., Cujba, A.M., Delgadillo Silva, L.F., Demcollari, T., Drotar, D.M., Duin, S., El-Agroudy, N.N., El-Armouche, A., Eugster, A., Gado, M., Gavalas, A., Gelinsky, M., Guirgus, M., Hansen, S., Hanton, E., Hasse, M., Henneicke, H., Heller, C., Hempel, H., Hogstrand, C., Hopkins, D., Jarc, L., Jones, P.M., Kamel, M., Kämmerer, S., King, A.J.F., Kurzbach, A., Lambert, C., Latunde-Dada, Y., Lieberam, I., Liers, J., Li, J.W., Linkermann, A., Locke, S., Ludwig, B., Manea, T., Maremonti, F., Marinicova, Z., McGowan, B.M., Mickunas, M., Mingrone, G., Mohanraj, K., Morawietz, H., Ninov, N., Peakman, M., Persaud, S.J., Pietzsch, J., Cachorro, E., Pullen, T.J., Pyrina, I., Rubino, F., Santambrogio, A., Schepp, F., Schlinkert, P., Scriba, L.D., Siow, R., Solimena, M., Spagnoli, F.M., Speier, S., Stavridou, A., Steenblock, C., Strano, A., Taylor, P., Tiepner, A., Tonnus, W., Tree, T., Watt, F.E., Werdermann, M., Wilson, M., Yusuf, N., and Ziegler, C.G.

Subjects
0301 basic medicine, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Clinical Biochemistry, education, MEDLINE, Disease, Settore MED/17 - MALATTIE INFETTIVE, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Pandemic, Diabetes Mellitus, medicine, Humans, Obesity, Metabolic disease, Pandemics, metabolic training programme, Medical education, Communicable disease, Scope (project management), SARS-CoV-2, Biochemistry (medical), COVID-19, General Medicine, 030104 developmental biology, Infectious disease (medical specialty), transCampus, Education, Medical, Continuing, Covid-19, Metabolic Training Programme, Transcampus, 030217 neurology & neurosurgery
Abstract

Currently, we are experiencing a true pandemic of a communicable disease by the virus SARS-CoV-2 holding the whole world firmly in its grasp. Amazingly and unfortunately, this virus uses a metabolic and endocrine pathway via ACE2 to enter our cells causing damage and disease. Our international research training programme funded by the German Research Foundation has a clear mission to train the best students wherever they may come from to learn to tackle the enormous challenges of diabetes and its complications for our society. A modern training programme in diabetes and metabolism does not only involve a thorough understanding of classical physiology, biology and clinical diabetology but has to bring together an interdisciplinary team. With the arrival of the coronavirus pandemic, this prestigious and unique metabolic training programme is facing new challenges but also new opportunities. The consortium of the training programme has recognized early on the need for a guidance and for practical recommendations to cope with the COVID-19 pandemic for the community of patients with metabolic disease, obesity and diabetes. This involves the optimal management from surgical obesity programmes to medications and insulin replacement. We also established a global registry analyzing the dimension and role of metabolic disease including new onset diabetes potentially triggered by the virus. We have involved experts of infectious disease and virology to our faculty with this metabolic training programme to offer the full breadth and scope of expertise needed to meet these scientific challenges. We have all learned that this pandemic does not respect or heed any national borders and that we have to work together as a global community. We believe that this transCampus metabolic training programme provides a prime example how an international team of established experts in the field of metabolism can work together with students from all over the world to address a new pandemic.Currently, we are experiencing a true pandemic of a communicable disease by the virus SARS-CoV-2 holding the whole world firmly in its grasp. Amazingly and unfortunately, this virus uses a metabolic and endocrine pathway via ACE2 to enter our cells causing damage and disease. Our international research training programme funded by the German Research Foundation has a clear mission to train the best students wherever they may come from to learn to tackle the enormous challenges of diabetes and its complications for our society. A modern training programme in diabetes and metabolism does not only involve a thorough understanding of classical physiology, biology and clinical diabetology but has to bring together an interdisciplinary team. With the arrival of the coronavirus pandemic, this prestigious and unique metabolic training programme is facing new challenges but also new opportunities. The consortium of the training programme has recognized early on the need for a guidance and for practical recommendations to cope with the COVID-19 pandemic for the community of patients with metabolic disease, obesity and diabetes. This involves the optimal management from surgical obesity programmes to medications and insulin replacement. We also established a global registry analyzing the dimension and role of metabolic disease including new onset diabetes potentially triggered by the virus. We have involved experts of infectious disease and virology to our faculty with this metabolic training programme to offer the full breadth and scope of expertise needed to meet these scientific challenges. We have all learned that this pandemic does not respect or heed any national borders and that we have to work together as a global community. We believe that this transCampus metabolic training programme provides a prime example how an international team of established experts in the field of metabolism can work together with students from all over the world to address a new pandemic.

Published
2021

88. DNA origami-based single-molecule forcespectroscopy elucidates RNA Polymerase IIIpre-initiation complex stability

Author

Kramm, K., Schroder, T., Gouge, Jerome, Vera, A.M., Gupta, K., Heiss, F.B., Engel, C., Berger, I., Vannini, A., Tinnefeld, P., and Grohmann, D.

Subjects
enzymes and coenzymes (carbohydrates), genetic processes, health occupations, bcs
Abstract

The TATA-binding protein (TBP) and a transcription factor (TF) IIB-like factor are important constituents of all eukaryotic initiation complexes. The reason for the emergence and strict requirement of the additional initiation factor Bdp1 in the RNA polymerase (RNAP) III system, however, remained elusive. A poorly studied aspect in this context is the effect of DNA strain arising from DNA compaction and transcriptional activity on initiation complex formation. We made use of a DNA origami-based force clamp to follow the assembly of human initiation complexes in the RNAP II and RNAP III systems at the single-molecule level under piconewton forces. We demonstrate that TBP-DNA complexes are force-sensitive and TFIIB is sufficient to stabilise TBP on a strained promoter. In contrast, Bdp1 is the pivotal component that ensures stable anchoring of initiation factors, and thus the polymerase itself, in the RNAP III system. Thereby, we offer an explanation for the crucial role of Bdp1 for the high transcriptional output of RNAP III.

Published
2020

89. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Author

Gillentine, M.A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P, Guo, H, Kim, C.N., Vries, B.B. de, Vissers, L.E.L.M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C.A., Bhat, G., Cobian, K., Bird, L.M., Friedman, J., Wright, M.S., Callewaert, B., Petit, F., Mathieu, S., Afenjar, A., Christensen, C.K., White, K.M., Elpeleg, O., Berger, I., Espineli, E.J., Fagerberg, C., Brasch-Andersen, C., Hansen, L.K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L.M., McKee, S., Mirzaa, G.M., Muss, C., Pappas, J., Peeters, H, Romano, C, Elia, M., Galesi, O., Simon, M.E., Gassen, K.L.I. van, Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I.V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R.K., Nowakowski, T., Bernier, R.A., Eichler, E.E., Gillentine, M.A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P, Guo, H, Kim, C.N., Vries, B.B. de, Vissers, L.E.L.M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C.A., Bhat, G., Cobian, K., Bird, L.M., Friedman, J., Wright, M.S., Callewaert, B., Petit, F., Mathieu, S., Afenjar, A., Christensen, C.K., White, K.M., Elpeleg, O., Berger, I., Espineli, E.J., Fagerberg, C., Brasch-Andersen, C., Hansen, L.K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L.M., McKee, S., Mirzaa, G.M., Muss, C., Pappas, J., Peeters, H, Romano, C, Elia, M., Galesi, O., Simon, M.E., Gassen, K.L.I. van, Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I.V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R.K., Nowakowski, T., Bernier, R.A., and Eichler, E.E.

Abstract

Contains fulltext : 245103.pdf (Publisher’s version ) (Open Access), BACKGROUND: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes are members of gene families, and we hypothesize that those with related molecular function share clinical presentations. METHODS: We tested our hypothesis by considering gene families that have multiple members with an enrichment of de novo variants among NDDs, as determined by previous meta-analyses. One of these gene families is the heterogeneous nuclear ribonucleoproteins (hnRNPs), which has 33 members, five of which have been recently identified as NDD genes (HNRNPK, HNRNPU, HNRNPH1, HNRNPH2, and HNRNPR) and two of which have significant enrichment in our previous meta-analysis of probands with NDDs (HNRNPU and SYNCRIP). Utilizing protein homology, mutation analyses, gene expression analyses, and phenotypic characterization, we provide evidence for variation in 12 HNRNP genes as candidates for NDDs. Seven are potentially novel while the remaining genes in the family likely do not significantly contribute to NDD risk. RESULTS: We report 119 new NDD cases (64 de novo variants) through sequencing and international collaborations and combined with published clinical case reports. We consider 235 cases with gene-disruptive single-nucleotide variants or indels and 15 cases with small copy number variants. Three hnRNP-encoding genes reach nominal or exome-wide significance for de novo variant enrichment, while nine are candidates for pathogenic mutations. Comparison of HNRNP gene expression shows a pattern consistent with a role in cerebral cortical development with enriched expression among radial glial progenitors. Clinical assessment of probands (n = 188-221) expands the phenotypes associated with HNRNP rare va

Published
2021

90. Zwakbegaafdheid, lichte verstandelijke beperking en EPA

Author

Kaasenbrood, A., Wunderink, L., Nagel, J.E.L. van der, Didden, H.C.M., Wieland, J., Berger, I., Hout, M. van der, Kaasenbrood, A., Wunderink, L., Nagel, J.E.L. van der, Didden, H.C.M., Wieland, J., Berger, I., and Hout, M. van der

Abstract

Item does not contain fulltext, Een aanzienlijk deel van de patiënten met een ernstige psychiatrische aandoening heeft ook zwakbegaafdheid of een lichte verstandelijke beperking. Herkenning van deze comorbiditeit en het daarop aanpassen van bejegening en behandeling is essentieel voor een goed behandeltraject. Dit hoofdstuk geeft professionals in de ggz hiervoor de nodige handvatten.

Published
2021

91. The transCampus Metabolic Training Programme Explores the Link of SARS-CoV-2 Virus to Metabolic Disease

Author

Bornstein, S. R., Guan, K., Brunbetaen, C., Mueller, G., Kamvissi-Lorenz, V., Lechler, R., Trembath, R., Mayr, M., Poston, L., Sancho, R., Ahmed, Sadek, Alfar, E., Aljani, B., Alves, T. C., Amiel, S., Andoniadou, C. L., Bandral, M., Belavgeni, A., Berger, I., Birkenfeld, A., Bonifacio, E., Chavakis, T., Chawla, P., Choudhary, P., Cujba, A. M., Delgadillo Silva, L. F., Demcollari, T., Drotar, D. M., Duin, S., El-Agroudy, N. N., El-Armouche, A., Eugster, A., Gado, M., Gavalas, A., Gelinsky, M., Guirgus, M., Hansen, S., Hanton, E., Hasse, M., Henneicke, H., Heller, C., Hempel, H., Hogstrand, C., Hopkins, D., Jarc, L., Jones, P. M., Kamel, M., Kammerer, S., King, A. J. F., Kurzbach, A., Lambert, C., Latunde-Dada, Y., Lieberam, I., Liers, J., Li, J. W., Linkermann, A., Locke, S., Ludwig, B., Manea, T., Maremonti, F., Marinicova, Z., Mcgowan, B. M., Mickunas, M., Mingrone, Geltrude, Mohanraj, K., Morawietz, H., Ninov, N., Peakman, M., Persaud, S. J., Pietzsch, J., Cachorro, E., Pullen, T. J., Pyrina, I., Rubino, F., Santambrogio, Alberto, Schepp, F., Schlinkert, P., Scriba, L. D., Siow, R., Solimena, M., Spagnoli, F. M., Speier, S., Stavridou, A., Steenblock, C., Strano, A., Taylor, P., Tiepner, A., Tonnus, W., Tree, T., Watt, F., Werdermann, M., Wilson, M., Yusuf, N., Ziegler, C. G., Ahmed S., Mingrone G. (ORCID:0000-0003-2021-528X), Santambrogio A., Bornstein, S. R., Guan, K., Brunbetaen, C., Mueller, G., Kamvissi-Lorenz, V., Lechler, R., Trembath, R., Mayr, M., Poston, L., Sancho, R., Ahmed, Sadek, Alfar, E., Aljani, B., Alves, T. C., Amiel, S., Andoniadou, C. L., Bandral, M., Belavgeni, A., Berger, I., Birkenfeld, A., Bonifacio, E., Chavakis, T., Chawla, P., Choudhary, P., Cujba, A. M., Delgadillo Silva, L. F., Demcollari, T., Drotar, D. M., Duin, S., El-Agroudy, N. N., El-Armouche, A., Eugster, A., Gado, M., Gavalas, A., Gelinsky, M., Guirgus, M., Hansen, S., Hanton, E., Hasse, M., Henneicke, H., Heller, C., Hempel, H., Hogstrand, C., Hopkins, D., Jarc, L., Jones, P. M., Kamel, M., Kammerer, S., King, A. J. F., Kurzbach, A., Lambert, C., Latunde-Dada, Y., Lieberam, I., Liers, J., Li, J. W., Linkermann, A., Locke, S., Ludwig, B., Manea, T., Maremonti, F., Marinicova, Z., Mcgowan, B. M., Mickunas, M., Mingrone, Geltrude, Mohanraj, K., Morawietz, H., Ninov, N., Peakman, M., Persaud, S. J., Pietzsch, J., Cachorro, E., Pullen, T. J., Pyrina, I., Rubino, F., Santambrogio, Alberto, Schepp, F., Schlinkert, P., Scriba, L. D., Siow, R., Solimena, M., Spagnoli, F. M., Speier, S., Stavridou, A., Steenblock, C., Strano, A., Taylor, P., Tiepner, A., Tonnus, W., Tree, T., Watt, F., Werdermann, M., Wilson, M., Yusuf, N., Ziegler, C. G., Ahmed S., Mingrone G. (ORCID:0000-0003-2021-528X), and Santambrogio A.

Abstract

Currently, we are experiencing a true pandemic of a communicable disease by the virus SARS-CoV-2 holding the whole world firmly in its grasp. Amazingly and unfortunately, this virus uses a metabolic and endocrine pathway via ACE2 to enter our cells causing damage and disease. Our international research training programme funded by the German Research Foundation has a clear mission to train the best students wherever they may come from to learn to tackle the enormous challenges of diabetes and its complications for our society. A modern training programme in diabetes and metabolism does not only involve a thorough understanding of classical physiology, biology and clinical diabetology but has to bring together an interdisciplinary team. With the arrival of the coronavirus pandemic, this prestigious and unique metabolic training programme is facing new challenges but also new opportunities. The consortium of the training programme has recognized early on the need for a guidance and for practical recommendations to cope with the COVID-19 pandemic for the community of patients with metabolic disease, obesity and diabetes. This involves the optimal management from surgical obesity programmes to medications and insulin replacement. We also established a global registry analyzing the dimension and role of metabolic disease including new onset diabetes potentially triggered by the virus. We have involved experts of infectious disease and virology to our faculty with this metabolic training programme to offer the full breadth and scope of expertise needed to meet these scientific challenges. We have all learned that this pandemic does not respect or heed any national borders and that we have to work together as a global community. We believe that this transCampus metabolic training programme provides a prime example how an international team of established experts in the field of metabolism can work together with students from all over the world to address a new pandemic.

Published
2021

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